Universität zu Köln

Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Hoksza, David ORCID: 0000-0003-4679-0557, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, May, Patrick ORCID: 0000-0001-8698-3770, Jespersen, Jakob B., Ahmed, Shehab S., Rifat, Zaara T., Heyne, Henrike O., Rahman, M. Sohel, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J. and Lal, Dennis (2020). MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Res., 48 (W1). S. W132 - 8. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

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Abstract

Human genome sequencing efforts have greatly expanded, and a plethora of missense variants identified both in patients and in the general population is now publicly accessible. Interpretation of the molecular-level effect of missense variants, however, remains challenging and requires a particular investigation of amino acid substitutions in the context of protein structure and function. Answers to questions like 'Is a variant perturbing a site involved in key macromolecular interactions and/or cellular signaling?', or 'Is a variant changing an amino acid located at the protein core or part of a cluster of known pathogenic mutations in 3D?' are crucial. Motivated by these needs, we developed MISCAST (missense variant to protein structure analysis web suite; http://miscast.broadinstitute.org/). MISCAST is an interactive and user-friendly web server to visualize and analyze missense variants in protein sequence and structure space. Additionally, a comprehensive set of protein structural and functional features have been aggregated in MISCAST from multiple databases, and displayed on structures alongside the variants to provide users with the biological context of the variant location in an integrated platform. We further made the annotated data and protein structures readily downloadable from MISCAST to foster advanced offline analysis of missense variants by a wide biological community.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Iqbal, Sumaiya UNSPECIFIED orcid.org/0000-0001-7700-4374 UNSPECIFIED Hoksza, David UNSPECIFIED orcid.org/0000-0003-4679-0557 UNSPECIFIED Perez-Palma, Eduardo UNSPECIFIED orcid.org/0000-0003-0546-5141 UNSPECIFIED May, Patrick UNSPECIFIED orcid.org/0000-0001-8698-3770 UNSPECIFIED Jespersen, Jakob B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ahmed, Shehab S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rifat, Zaara T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heyne, Henrike O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rahman, M. Sohel UNSPECIFIED UNSPECIFIED UNSPECIFIED Cottrell, Jeffrey R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wagner, Florence F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Daly, Mark J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Campbell, Arthur J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-327036
DOI:	10.1093/nar/gkaa361
Journal or Publication Title:	Nucleic Acids Res.
Volume:	48
Number:	W1
Page Range:	S. W132 - 8
Date:	2020
Publisher:	OXFORD UNIV PRESS
Place of Publication:	OXFORD
ISSN:	1362-4962
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language VISUALIZATION Multiple languages Biochemistry & Molecular Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32703